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Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia

Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial nerves, linked to mutations in ANKH or GJA1 genes. Here we describe an adult case with clinical features of CMD, who developed cerebral expa...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: DiFrancesco, Jacopo C, Isimbaldi, Giuseppe, Bedeschi, Maria Francesca, Castellotti, Barbara
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5847834/
https://ncbi.nlm.nih.gov/pubmed/29444796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-223390
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